Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene

J Melki; P Burlet; O Clermont; F Pascal; B Paul; S Abdelhak; R Sherrington; H Gurling; Y Nakamura; J Weissenbach

doi:10.1006/geno.1993.1103

Refined linkage map of chromosome 5 in the region of the spinal muscular atrophy gene

Genomics. 1993 Mar;15(3):521-4. doi: 10.1006/geno.1993.1103.

Authors

J Melki¹, P Burlet, O Clermont, F Pascal, B Paul, S Abdelhak, R Sherrington, H Gurling, Y Nakamura, J Weissenbach, et al.

Affiliation

¹ Unité de Recherches sur les Handicaps Génétiques de l'Enfant INSERM U-12, Hôpital des Enfants-Malades, Paris, France.

PMID: 8096827
DOI: 10.1006/geno.1993.1103

Abstract

The genetic map in the region of human chromosome 5 that harbors the gene for autosomal recessive forms of spinal muscular atrophy (SMA) has been refined by a multilocus linkage study in 50 SMA-segregating families. Among six markers spanning 8 cM for combined sexes, four were shown to be tightly linked to the SMA locus. Multipoint linkage analysis was used to establish the best estimate of the SMA gene location. Our data suggest that the most likely location for the SMA locus is between blocks AFM114ye7 (D5S465)/EF5.15 (D5S125) and MAP-1B/JK53 (D5S112) at a sex-combined genetic distance of 2.4 and 1.7 cM, respectively. Thus the SMA gene lies in the 4-cM region between these two blocks. This information is of primary importance for designing strategies for isolating the SMA gene.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 5*
DNA, Single-Stranded
Genetic Linkage*
Humans
Molecular Sequence Data
Muscular Atrophy, Spinal / genetics*
Polymorphism, Restriction Fragment Length

Substances

DNA, Single-Stranded